Canonical Allele Identifier: CA1109065341
Gene: EN2 HGNC NCBI

Linked Data

dbSNP Id: rs533942392
gnomAD v3: 7-155461378-C-G
gnomAD v4: 7-155461378-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155461378C>G , CM000669.2:g.155461378C>G GRCh38
NC_000007.13:g.155254073C>G , CM000669.1:g.155254073C>G GRCh37
NC_000007.12:g.154946834C>G NCBI36
NG_007124.1:g.9659C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000297375.4:c.686-993C>G MANE Select ENSP00000297375.4:n.686-993C>G
NM_001427.3:c.686-993C>G NP_001418.2:n.686-993C>G
NM_001427.4:c.686-993C>G MANE Select NP_001418.2:n.686-993C>G
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